A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567344



Internal ID18421734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18245389..18245589hg38UCSC Ensembl
Outerchr6:18245379..18245623hg38UCSC Ensembl
Innerchr6:18245620..18245820hg19UCSC Ensembl
Outerchr6:18245610..18245854hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766091
Samples
Known GenesDEK
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567344
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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